ALS / Lou Gehrig's Disease

[waltky]

ALS gene discovery funded by Ice Bucket Challenge events...

Ice Bucket Challenge funds gene discovery in ALS (MND) research
Wed, 27 Jul 2016 - The Ice Bucket Challenge that went viral in 2014 has funded the discovery of an important gene in the neurodegenerative disease ALS, the ALS Association says.

Scientists have identified a new gene contributing to the disease, NEK1. The Ice Bucket Challenge has raised $115m (£87.7m) from people pouring cold water over themselves and posting the video on social media. It was criticised as a stunt, but has funded six research projects. Research by Project MinE, published in Nature Genetics, is the largest-ever study of inherited ALS, also known as motor neurone disease (MND).

More than 80 researchers in 11 countries searched for ALS risk genes in families affected by the disease. "The sophisticated gene analysis that led to this finding was only possible because of the large number of ALS samples available," Lucie Bruijn of the ALS Association says. The identification of gene NEK1 means scientists can now develop a gene therapy treating it. Although only 10% of ALS patients have the inherited form, researchers believe that genetics contribute to a much larger percentage of cases.

Massachusetts Governor Charlie Baker and his deputy Karyn Polito participate in the Ice Bucket Challenge on 10 August 2015 in Boston

Social media was awash with videos of people pouring cold water over their heads to raise money for ALS in the summer of 2014. More than 17 million people uploaded videos to Facebook, including many celebrities who rose to the challenge, which were then watched by 440 million people worldwide.

What is amyotrophic lateral sclerosis (ALS), also known as motor neurone disease (MND)?

* fatal, rapidly progressive disease that affects the brain and spinal cord
* attacks nerves that control movement so muscles refuse to work (sensory nerves are not usually affected)
* can leave people locked in a failing body, unable to move, talk and eventually, breathe
* affects people from all communities
* scientist Stephen Hawking is best-known person with the disease
* kills around a third of people within a year of diagnosis and more than half within two years
* there is no cure

http://www.bbc.co.uk/news/health-36901867

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Ice Bucket Challenge mum praises ALS 'breakthrough'
Wed, 27 Jul 2016 - Nancy Frates, whose son Pete has ALS, welcomes a research breakthrough, but says more donations are needed to find a "cure".

The woman who is credited with starting the Ice Bucket Challenge said she hopes a scientific breakthrough in research into the disease will lead to a cure. The ALS Association has said that the campaign, which went viral in 2014, has funded an important scientific gene discovery in the progressive neurodegenerative disease.

Ice Bucket Challenge mum praises 'breakthrough'

Nancy Frates, whose son Pete was diagnosed with ALS (amyotrophic lateral sclerosis), known as Motor Neurone Disease in the UK, told BBC 5 live: "We are hoping that it leads to the treatment and the cure, and it will, but it's going to take donations to get us there."

Nancy also defended the campaign against critics who said it was just a "publicity stunt", telling Afternoon Edition that anyone who thought that should "come and live in my house for one day" to see the "horrific" reality of living with the disease.

http://www.bbc.co.uk/news/health-36909876

[waltky]

Hope for Stephen Hawking?

Completely 'locked-in' patients can communicate
Wed, 01 Feb 2017 | Patients with no control over their body answer questions as a computer interprets brain signals.

A brain-computer interface was used to read the thoughts of patients to answer basic yes-or-no questions. One man was able to repeatedly refuse permission for his daughter to get married. The study on four patients in Switzerland - published in PLOS Biology - also showed they were happy despite the effects of being "locked-in".

The patients all had advanced forms of amyotrophic lateral sclerosis, in which the brain loses the ability to control muscles. It eventually traps people in their own body - they are able to think, but incapable of moving or talking. When they become "locked in", it can still be possible to develop ways of communication using eye movements. But all the patients in the study, at the Wyss Center in Switzerland, were "completely locked in" and could not even move their eyes.

Brain signals

The activity of brain cells can change oxygen levels in the blood, which in turn changes the colour of the blood. And scientists were able to peer inside the brain using light to detect the blood's colour, through a technique called near-infrared spectroscopy. They then asked the patients yes-or-no questions such as: "Your husband's name is Joachim?" to train a computer to interpret the brain signals. The system achieved an accuracy of about 75%.

Completely locked in patient

It means questions need to be asked repeatedly in order to be certain of a patient's answer. Prof Ujwal Chaudhary, one of the researchers, told BBC News: "It makes a great difference to their quality of life. "Imagine if you had no means of communicating and then you could say yes or no - it makes a huge impact." In one case a daughter wanted the blessing of her completely locked-in father before marrying her boyfriend.

'Remarkable'

But eight times out of 10 the answer came back no. "We don't know why he said no," said Prof Chaudhary. "But they got married… nothing can come between love." The form of communication is being used for more practical day-to-day means such as finding out if patients are in pain or want a family visit.

Prof John Donoghue, the director of the Wyss Center, told the BBC: "If a person who is totally locked-in is able to communicate, you're freeing the mind to interact with the world around them. "That is remarkable."

http://www.bbc.co.uk/news/health-38761461

[DGUtley]

This is a brutal disease. I watched a buddy's brother slowly die of this disease. I'd see him every week in Church as he slowly decayed. Brutal.

[waltky]

Artificial Intelligence Robots Aiding in Battle Against ALS...

Artificial Intelligence Robots Aiding in Battle Against Crippling Nerve Disease
August 10, 2017 — Artificial intelligence robots are turbocharging the race to find new drugs for the crippling nerve disorder ALS, commonly called Lou Gehrig's disease. The condition attacks and kills nerve cells controlling muscles, leading to weakness, paralysis and, ultimately, respiratory failure.

There are only two drugs approved by the U.S. Food and Drug Administration to slow the progression of ALS (amyotrophic lateral sclerosis), one available since 1995 and the other approved just this year. About 140,000 new cases are diagnosed a year globally, and there is no cure. "Many doctors call it the worst disease in medicine, and the unmet need is huge," said Richard Mead of the Sheffield Institute of Translational Neuroscience, who has found artificial intelligence (AI) is already speeding up his work. Such robots — complex software run through powerful computers — work as tireless and unbiased super-researchers. They analyze huge chemical, biological and medical databases, alongside reams of scientific papers, far quicker than humanly possible, throwing up new biological targets and potential drugs.

Cell deaths prevented

One candidate proposed by AI machines recently produced promising results in preventing the death of motor neurone cells and delaying disease onset in preclinical tests in Sheffield. Mead, who aims to present the work at a medical meeting in December, is now assessing plans for clinical trials. He and his team in northern England are not the only ones waking up to the ability of AI to elucidate the complexities of ALS. In Arizona, the Barrow Neurological Institute last December found five new genes linked to ALS by using IBM's Watson supercomputer. Without the machine, researchers estimate the discovery would have taken years rather than only a few months. Mead believes ALS is ripe for AI and machine-learning because of the rapid expansion in genetic information about the condition and the fact there are good test-tube and animal models with which to evaluate drug candidates.

Former Tennessee Titans linebacker Tim Shaw, second from left, leaves the field with Titans general manager Jon Robinson, left, and head coach Mike Mularkey, right, after a team activity at its training facility in Nashville, Tenn., June 15, 2017. Shaw, who was diagnosed with ALS in 2014, has worked with the special teams staff and players.

That is good news for ALS patients seeking better treatment options. Famous sufferers include Gehrig, the 1923-39 New York Yankees baseball player; actor and playwright Sam Shepard, who died last month; and cosmologist Stephen Hawking, a rare example of someone living for decades with the condition. If the research goes on to deliver new medicines, it would mark a notable victory for AI in drug discovery, bolstering the prospects of a growing batch of startup companies focused on the technology. Those firms are based on the premise that while AI robots won't replace scientists and clinicians, they should save time and money by finding drug leads several times faster than conventional processes.

British 'unicorn'

Mead from Sheffield is working with BenevolentAI, one of a handful of British "unicorns" — private companies with a market value above $1 billion, in this case $1.7 billion — which is rapidly expanding operations at its offices in central London. Others in the field include Scotland's Exscientia and U.S.-based firms Berg, Numerate, twoXAR, Atomwise and InSilico Medicine — the last of which recently launched a drug discovery platform geared specifically to ALS. "What we are trying to do is find relationships that will give us new targets in disease," said Jackie Hunter, a former drug hunter at GlaxoSmithKline (GSK) who now heads Benevolent's pharma business. "We can do things so much more dynamically and be really responsive to what essentially the information is telling us."

A view of BenevolentAI's home page.

Unlike humans, who may have pet theories, AI scans through data and generates hypotheses in an unbiased way. Conventional drug discovery remains a hit-and-miss affair, and Hunter believes the 50 percent failure rates seen for experimental compounds in mid- and late-stage clinical trials due to lack of efficacy is unsustainable, forcing a shift to AI.[ A key test will come with a study by Benevolent to assess a previously unsuccessful compound from Johnson & Johnson in a new disease area — this time for treating Parkinson's disease patients with excessive daytime sleepiness.[ Big pharmaceutical companies like GSK, Sanofi and Merck are now exploring the potential of AI through deals with startups.

Being careful